Incidental Mutation 'IGL02089:Hipk3'
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ID279361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hipk3
Ensembl Gene ENSMUSG00000027177
Gene Namehomeodomain interacting protein kinase 3
SynonymsDYRK6, FIST3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02089
Quality Score
Status
Chromosome2
Chromosomal Location104426481-104494446 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104431379 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 937 (D937G)
Ref Sequence ENSEMBL: ENSMUSP00000106754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028600] [ENSMUST00000111124] [ENSMUST00000111125]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028600
AA Change: D916G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: D916G

DomainStartEndE-ValueType
S_TKc 197 525 1.58e-76 SMART
low complexity region 844 859 N/A INTRINSIC
low complexity region 887 906 N/A INTRINSIC
low complexity region 1093 1117 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111124
AA Change: D916G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: D916G

DomainStartEndE-ValueType
S_TKc 197 525 1.58e-76 SMART
low complexity region 844 859 N/A INTRINSIC
low complexity region 887 906 N/A INTRINSIC
low complexity region 1093 1117 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111125
AA Change: D937G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: D937G

DomainStartEndE-ValueType
S_TKc 197 525 1.58e-76 SMART
low complexity region 865 880 N/A INTRINSIC
low complexity region 908 927 N/A INTRINSIC
low complexity region 1114 1138 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132622
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired insulin secretion and glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 69,060,187 silent Het
Adck1 G T 12: 88,446,710 V271F probably damaging Het
Aggf1 T C 13: 95,370,929 D116G probably benign Het
Anapc1 A T 2: 128,663,933 V661E probably damaging Het
Apoa5 T C 9: 46,269,139 probably null Het
Atp8a2 C T 14: 60,026,920 probably null Het
Bnipl A T 3: 95,250,266 probably benign Het
Cbs T G 17: 31,615,545 D490A probably benign Het
Chrdl1 G T X: 143,303,514 H199N possibly damaging Het
D3Ertd254e T C 3: 36,164,728 F300S possibly damaging Het
Dcaf1 C T 9: 106,863,111 T1232I probably benign Het
Ddx19b T C 8: 111,008,845 probably benign Het
Ephb4 A G 5: 137,370,762 K805E probably damaging Het
Ergic3 A G 2: 156,010,475 N135D probably benign Het
Fbxw18 C T 9: 109,701,322 V74I probably benign Het
Fmo4 G T 1: 162,799,080 T299N probably benign Het
Gmeb1 T C 4: 132,225,836 K540E probably damaging Het
H60c T A 10: 3,259,826 S154C possibly damaging Het
Herc1 T C 9: 66,480,869 L3812S probably damaging Het
Ift122 A G 6: 115,925,437 D1079G probably benign Het
Il6st T C 13: 112,495,240 W438R probably benign Het
Lypla2 C T 4: 135,969,621 V117I probably benign Het
Mapk8ip1 T C 2: 92,385,875 Y516C probably damaging Het
Mmp24 G A 2: 155,812,293 G397D probably damaging Het
Muc4 G A 16: 32,751,313 S397N possibly damaging Het
Muc5b T G 7: 141,863,250 V3311G probably benign Het
Naca A G 10: 128,036,489 probably benign Het
Nrxn1 A G 17: 91,088,401 V109A probably benign Het
Nup210 T G 6: 91,076,698 D279A probably benign Het
Olfr1097 A G 2: 86,891,116 S20P possibly damaging Het
Olfr981 A T 9: 40,022,770 I126F probably damaging Het
Pappa T A 4: 65,156,124 V305E possibly damaging Het
Pcdh19 A T X: 133,588,496 M977K probably benign Het
Pdzph1 T A 17: 58,967,339 I837F possibly damaging Het
Phip A T 9: 82,871,319 L1791M probably damaging Het
Pkdrej C T 15: 85,816,288 V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,448 V1063M probably damaging Het
Qprt A T 7: 127,108,356 M220K probably damaging Het
R3hcc1 T C 14: 69,700,026 K391E possibly damaging Het
Rbbp7 C A X: 162,771,056 P162Q probably benign Het
Rev3l A T 10: 39,825,099 N1864I probably damaging Het
Rims1 A G 1: 22,630,475 I84T possibly damaging Het
Rnase2b A T 14: 51,162,783 K107I probably benign Het
Sbf1 C A 15: 89,302,505 E864* probably null Het
Strip2 G A 6: 29,917,180 probably benign Het
Stx4a T C 7: 127,848,398 I238T probably damaging Het
Tbc1d2b C T 9: 90,222,359 V577I possibly damaging Het
Tex38 T C 4: 115,780,394 T71A possibly damaging Het
Usp38 T C 8: 80,985,714 E564G possibly damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Wwp2 T A 8: 107,554,057 L644Q probably damaging Het
Zpld1 A G 16: 55,251,611 I95T probably benign Het
Other mutations in Hipk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Hipk3 APN 2 104430231 missense possibly damaging 0.52
IGL00937:Hipk3 APN 2 104433172 missense possibly damaging 0.82
IGL01719:Hipk3 APN 2 104437089 missense possibly damaging 0.78
IGL01802:Hipk3 APN 2 104471853 splice site probably benign
IGL01932:Hipk3 APN 2 104470981 missense probably damaging 1.00
IGL02522:Hipk3 APN 2 104471331 missense probably damaging 1.00
IGL02525:Hipk3 APN 2 104471412 missense probably damaging 1.00
IGL02959:Hipk3 APN 2 104471259 missense probably damaging 1.00
IGL02986:Hipk3 APN 2 104433741 missense probably damaging 1.00
R0136:Hipk3 UTSW 2 104439293 missense probably benign 0.02
R0277:Hipk3 UTSW 2 104441248 missense probably damaging 1.00
R0308:Hipk3 UTSW 2 104433207 missense probably damaging 0.99
R0367:Hipk3 UTSW 2 104431249 nonsense probably null
R0597:Hipk3 UTSW 2 104433637 missense possibly damaging 0.94
R1079:Hipk3 UTSW 2 104471698 missense probably benign 0.00
R1171:Hipk3 UTSW 2 104471676 missense probably benign 0.02
R1244:Hipk3 UTSW 2 104433256 missense probably damaging 1.00
R1509:Hipk3 UTSW 2 104441262 missense probably benign 0.01
R1616:Hipk3 UTSW 2 104433745 nonsense probably null
R1893:Hipk3 UTSW 2 104433256 missense probably damaging 1.00
R1938:Hipk3 UTSW 2 104430188 missense possibly damaging 0.89
R1969:Hipk3 UTSW 2 104433841 missense probably damaging 1.00
R1975:Hipk3 UTSW 2 104471173 missense probably benign 0.00
R1985:Hipk3 UTSW 2 104434435 missense probably benign 0.16
R2105:Hipk3 UTSW 2 104439392 missense probably damaging 0.97
R2422:Hipk3 UTSW 2 104471485 missense probably benign 0.01
R3028:Hipk3 UTSW 2 104433790 missense probably benign
R3747:Hipk3 UTSW 2 104441283 nonsense probably null
R3923:Hipk3 UTSW 2 104470762 missense probably damaging 1.00
R4320:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4321:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4322:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4323:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4324:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R4595:Hipk3 UTSW 2 104441277 missense probably benign 0.01
R4604:Hipk3 UTSW 2 104439329 missense probably damaging 1.00
R4657:Hipk3 UTSW 2 104433759 missense probably benign 0.00
R5193:Hipk3 UTSW 2 104430000 missense possibly damaging 0.94
R5769:Hipk3 UTSW 2 104434953 missense possibly damaging 0.69
R5843:Hipk3 UTSW 2 104440224 missense possibly damaging 0.65
R5906:Hipk3 UTSW 2 104471808 missense probably damaging 1.00
R5976:Hipk3 UTSW 2 104471184 missense probably damaging 1.00
R5991:Hipk3 UTSW 2 104437983 missense probably damaging 1.00
R6214:Hipk3 UTSW 2 104433741 missense probably damaging 1.00
R6215:Hipk3 UTSW 2 104433741 missense probably damaging 1.00
R6285:Hipk3 UTSW 2 104471425 missense probably damaging 1.00
R6523:Hipk3 UTSW 2 104439408 missense possibly damaging 0.50
R6713:Hipk3 UTSW 2 104446571 missense probably damaging 1.00
R7381:Hipk3 UTSW 2 104439351 missense probably damaging 0.99
R7517:Hipk3 UTSW 2 104434714 missense probably benign 0.00
X0021:Hipk3 UTSW 2 104441366 critical splice acceptor site probably null
Z1088:Hipk3 UTSW 2 104434629 missense probably damaging 1.00
Posted On2015-04-16